Gene: MAPK8IP1

Alternate names for this Gene: IB1|JIP-1|JIP1|PRKM8IP

Gene Summary: This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes.

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

Description of this Gene: mitogen-activated protein kinase 8 interacting protein 1

Type of Gene: protein-coding

rs78014668 in MAPK8IP1 gene and Depressed bipolar I disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs119489103 in MAPK8IP1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 23492873 2013 Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes?

PMID 22962670 2012 Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.

rs77403571 in MAPK8IP1 gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.